Peroxisomal disorder
Encyclopedia
Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome
functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.
spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata
type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease
, neonatal adrenoleukodystrophy, and Zellweger syndrome
. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy
.
PBD-ZSD is most commonly caused by mutations in the PEX1, PEX6, PEX10, PEX12, and PEX26 genes. This results in the over-accumulation of very long chain fatty acids and branched chain fatty acids, such as phytanic acid
. In addition, PBD-ZSD patients show deficient levels of plasmalogens, ether-phospholipids necessary for normal brain and lung function.
RCDP1 is caused by mutations in the PEX7 gene, which encodes the PTS2 receptor. RCDP1 patients can develop large tissue stores of branched chain fatty acids, such as phytanic acid
, and show reduced levels of plasmalogens.
The mission of the ELA is to help and support families affected by leukodystrophy,
to stimulate the development of research thanks to the ELA Foundation created in 2005, to raise public awareness,
to develop its work at international level. ELA is thus a bridge between all forms of leukodystrophy and a family solidarity network.
The mission of The Global Foundation for Peroxisomal Disorders is to help children and families faced with a diagnosis of a Peroxisomal Biogenesis Disorder (in the Zellweger Spectrum of Disorders) and to assist family members and professionals through educational programs, research, and support services.
Rhizokids is dedicated to providing support for families affected by RCDP, promoting awareness of RCDP, and raising funds for RCDP research so that one day we will have a cure!
The United Leukodystrophy Foundation is dedicated to helping children and adults who have leukodystrophy and assisting the family members, professionals and support services that serve them. The ULF is committed to the identification, treatment and cure of all leukodystrophies through programs of education, advocacy, research and service.
Our mission is to promote, advance, and improve awareness of Zellweger syndrome and other peroxisomal disorders, to assist, support, and aid, financially or otherwise, individuals and families affected by Zellweger syndrome.
Peroxisome
Peroxisomes are organelles found in virtually all eukaryotic cells. They are involved in the catabolism of very long chain fatty acids, branched chain fatty acids, D-amino acids, polyamines, and biosynthesis of plasmalogens, etherphospholipids critical for the normal function of mammalian brains...
functions. This may be due to defects in single enzymes important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.
Peroxisome biogenesis disorders
Peroxisome biogenesis disorders (PBDs) include the Zellweger syndromeZellweger syndrome
Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare, congenital disorder, characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called leukodystrophies...
spectrum (PBD-ZSD) and rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones , seizures, recurrent respiratory tract infections, and congential cataracts.-Types:...
type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum disease
Infantile Refsum disease
Infantile Refsum disease , also called infantile phytanic acid storage disease, is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum. These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with...
, neonatal adrenoleukodystrophy, and Zellweger syndrome
Zellweger syndrome
Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare, congenital disorder, characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called leukodystrophies...
. Collectively, PBDs are autosomal recessive developmental brain disorders that also result in skeletal and craniofacial dysmorphism, liver dysfunction, progressive sensorineural hearing loss, and retinopathy
Retinopathy
Retinopathy is a general term that refers to some form of non-inflammatory damage to the retina of the eye. Frequently, retinopathy is an ocular manifestation of systemic disease.-Pathophysiology:Causes of retinopathy are varied:...
.
PBD-ZSD is most commonly caused by mutations in the PEX1, PEX6, PEX10, PEX12, and PEX26 genes. This results in the over-accumulation of very long chain fatty acids and branched chain fatty acids, such as phytanic acid
Phytanic acid
Phytanic acid is a branched chain fatty acid that humans can obtain through the consumption of dairy products, ruminant animal fats, and certain fish. Western diets are estimated to provide 50-100 mg of phytanic acid per day...
. In addition, PBD-ZSD patients show deficient levels of plasmalogens, ether-phospholipids necessary for normal brain and lung function.
RCDP1 is caused by mutations in the PEX7 gene, which encodes the PTS2 receptor. RCDP1 patients can develop large tissue stores of branched chain fatty acids, such as phytanic acid
Phytanic acid
Phytanic acid is a branched chain fatty acid that humans can obtain through the consumption of dairy products, ruminant animal fats, and certain fish. Western diets are estimated to provide 50-100 mg of phytanic acid per day...
, and show reduced levels of plasmalogens.
| Name | OMIM | Gene | ICD-10 ICD-10 The International Statistical Classification of Diseases and Related Health Problems, 10th Revision is a medical classification list for the coding of diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases, as maintained by the... |
|---|---|---|---|
| Zellweger syndrome Zellweger syndrome Zellweger syndrome, also called cerebrohepatorenal syndrome is a rare, congenital disorder, characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called leukodystrophies... |
PEX1 PEX1 Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene.This gene encodes a member of the AAA protein family, a large group of ATPases associated with diverse cellular activities... , PEX2, PEX3 PEX3 Peroxisomal biogenesis factor 3 is a protein that in humans is encoded by the PEX3 gene.-External Links:* *... , PEX5 PEX5 Peroxisomal targeting signal 1 receptor is a protein that in humans is encoded by the PEX5 gene.-Interactions:PEX5 has been shown to interact with PEX12, PEX13 and PEX14.-External Links:* *... , PEX6 PEX6 Peroxisome assembly factor 2 is a protein that in humans is encoded by the PEX6 gene.-Interactions:PEX6 has been shown to interact with PEX1 and PEX26.-External Links:* *... , PEX12 PEX12 Peroxisome assembly protein 12 is a protein that in humans is encoded by the PEX12 gene.- Function :The peroxisome biogenesis disorders are a group of genetically heterogeneous diseases that are usually lethal in early infancy... , PEX14 PEX14 Peroxisomal membrane protein PEX14 is a protein that in humans is encoded by the PEX14 gene.-Interactions:PEX14 has been shown to interact with* PEX5* PEX7* PEX13-External Links:* *... , PEX26 PEX26 Peroxisome assembly protein 26 is a protein that in humans is encoded by the PEX26 gene.-Interactions:PEX26 has been shown to interact with PEX1, PEX6 and SUFU.-External Links:* *... |
Q87.82 | |
| Infantile Refsum disease Infantile Refsum disease Infantile Refsum disease , also called infantile phytanic acid storage disease, is a rare autosomal recessive congenital peroxisomal biogenesis disorder within the Zellweger spectrum. These are disorders of the peroxisomes that are clinically similar to Zellweger syndrome and associated with... |
PEX1 PEX1 Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene.This gene encodes a member of the AAA protein family, a large group of ATPases associated with diverse cellular activities... , PEX2, PEX26 PEX26 Peroxisome assembly protein 26 is a protein that in humans is encoded by the PEX26 gene.-Interactions:PEX26 has been shown to interact with PEX1, PEX6 and SUFU.-External Links:* *... |
E80.3 | |
| Neonatal adrenoleukodystrophy | PEX5 PEX5 Peroxisomal targeting signal 1 receptor is a protein that in humans is encoded by the PEX5 gene.-Interactions:PEX5 has been shown to interact with PEX12, PEX13 and PEX14.-External Links:* *... , PEX1 PEX1 Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene.This gene encodes a member of the AAA protein family, a large group of ATPases associated with diverse cellular activities... , PEX10 PEX10 Peroxisome biogenesis factor 10 is a protein that in humans is encoded by the PEX10 gene.- Function :Peroxisome biogenesis factor 10 os involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane... , PEX13 PEX13 Peroxisomal membrane protein PEX13 is a protein that in humans is encoded by the PEX13 gene.. It located on chromosome 2 next to KIAA1841-Interactions:PEX13 has been shown to interact with PEX14, PEX5 and PEX19.-External Links:* *... , PEX26 PEX26 Peroxisome assembly protein 26 is a protein that in humans is encoded by the PEX26 gene.-Interactions:PEX26 has been shown to interact with PEX1, PEX6 and SUFU.-External Links:* *... |
E71.331 | |
| RCDP Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones , seizures, recurrent respiratory tract infections, and congential cataracts.-Types:... Type 1 |
PEX7 | Q77.3 |
Enzyme and transporter defects
Peroxisomal disorders also include:| Name | OMIM | Gene | ICD-10 NA |
|---|---|---|---|
| Pipecolic acidemia Pipecolic acidemia Pipecolic acidemia, also called hyperpipecolic acidemia or hyperpipecolatemia, is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect.... |
PHYH | E80.301 | |
| Acatalasia Acatalasia Acatalasia is an autosomal recessive peroxisomal disorder caused by a complete lack of catalase.-Presentation:... |
CAT Catalase Catalase is a common enzyme found in nearly all living organisms that are exposed to oxygen, where it catalyzes the decomposition of hydrogen peroxide to water and oxygen... |
E80.310 | |
| Hyperoxaluria type 1 | AGXT AGXT Serine—pyruvate aminotransferase is an enzyme that in humans is encoded by the AGXT gene.-External links:* -Further reading:... |
E80.311 | |
| Acyl-CoA oxidase deficiency | ACOX1 ACOX1 Peroxisomal acyl-coenzyme A oxidase 1 is an enzyme that in humans is encoded by the ACOX1 gene.-Further reading:... |
E80.313 | |
| D-bifunctional protein deficiency D-Bifunctional Protein Deficiency D-Bifunctional protein deficiency is an autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders are usually caused by a combination of peroxisomal assembly defects or by deficiencies of specific peroxisomal enzymes... |
HSD17B4 HSD17B4 Peroxisomal multifunctional enzyme type 2 is a protein that in humans is encoded by the HSD17B4 gene.-Further reading:... |
E80.314 | |
| Dihydroxyacetonephosphate acyltransferase deficiency | GNPAT | E80.315 | |
| X-linked adrenoleukodystrophy | ABCD1 ABCD1 ABCD1 is a protein that transfers fatty acids into peroxisomes.The protein encoded by this gene is a member of the superfamily of ATP-binding cassette transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct... |
E71.33 | |
| α-Methylacyl-CoA racemase deficiency | AMACR AMACR Alpha-methylacyl-CoA racemase, also known as AMACR, is a protein which in humans is encoded by the AMACR gene.- Clinical significance :Several studies have suggested that AMACR can be used as a prostate cancer biomarker.... |
||
| RCDP Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones , seizures, recurrent respiratory tract infections, and congential cataracts.-Types:... Type 2 |
DHAPAT | Q77.3 | |
| RCDP Rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones , seizures, recurrent respiratory tract infections, and congential cataracts.-Types:... Type 3 |
AGPS Alkylglycerone phosphate synthase Alkylglycerone phosphate synthase is an enzyme associated with Type 3 Rhizomelic chondrodysplasia punctata.-External links:... |
Q77.3 | |
| Adult Refsum disease-1 Refsum's disease Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis, phytanic acid oxidase deficiency and phytanic acid storage disease, is an autosomal recessive neurological disease that results from the over-accumulation of phytanic acid in cells and tissues... |
PHYH | G60.1 | |
| Mulibrey nanism Mulibrey nanism Mulibrey nanism , also called Perheentupa syndrome and pericardial constriction with growth failure, is a rare autosomal recessive congenital disorder. It causes severe growth failure along with abnormalities of the heart, muscle, liver, brain and eye... |
TRIM37 TRIM37 Tripartite motif-containing protein 37 is a protein that in humans is encoded by the TRIM37 gene.-Further reading:... |
Additional resources for patients and families
The mission of the ELA is to help and support families affected by leukodystrophy,
to stimulate the development of research thanks to the ELA Foundation created in 2005, to raise public awareness,
to develop its work at international level. ELA is thus a bridge between all forms of leukodystrophy and a family solidarity network.
The mission of The Global Foundation for Peroxisomal Disorders is to help children and families faced with a diagnosis of a Peroxisomal Biogenesis Disorder (in the Zellweger Spectrum of Disorders) and to assist family members and professionals through educational programs, research, and support services.
Rhizokids is dedicated to providing support for families affected by RCDP, promoting awareness of RCDP, and raising funds for RCDP research so that one day we will have a cure!
The United Leukodystrophy Foundation is dedicated to helping children and adults who have leukodystrophy and assisting the family members, professionals and support services that serve them. The ULF is committed to the identification, treatment and cure of all leukodystrophies through programs of education, advocacy, research and service.
Our mission is to promote, advance, and improve awareness of Zellweger syndrome and other peroxisomal disorders, to assist, support, and aid, financially or otherwise, individuals and families affected by Zellweger syndrome.